A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717258



Internal ID140924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34368905..34368947hg38UCSC Ensembl
chr18:31948869..31948911hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416377
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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